(Q34134342)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

1 reference

1 reference

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Carmen Ayuso

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Rajkumar Ramesar

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

26

T B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

L M Astuto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J M Bork

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M D Weston

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J W Askew

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R R Fields

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

D J Orten

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S J Ohliger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Riazuddin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Khan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Riazuddin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

H Kremer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P van Hauwe

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

C G Moller

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

C W R J Cremers

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J R Heckenlively

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

K Rohrschneider

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

U Spandau

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J Greenberg

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

W Reardon

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P Bitoun

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

J Millan

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R Legge

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

W J Kimberling

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

19 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

262-275

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Defective myosin VIIA gene responsible for Usher syndrome type 1B

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Usher syndrome: definition and estimate of prevalence from two high-risk populations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Usher syndrome: results of a screening program in Colombia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Clinical and molecular genetics of Usher syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379159

Rate of visual field loss in retinitis pigmentosa

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12075507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dystrophia retinae pigmentosa--dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12075507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12075507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/341558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12075507%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference